Genetics at GOSH

I have been wondering if I would die of old age before I got my implant done….

I have two appointments at the RNTNE Hospital 6th (audiologist and hearing therapist) and 13th December (consultant and panel). Hopefully will know when op likely to be after that.

Today I went to Great Ormond Street Hospital to see the geneticist as two of my five children have inherited high-frequency deafness.  (Both boys). GOSH is lovely, obviously dealing with children improves communication skills because everyone was helpful. The consultant took a detailed history and drew out the family tree  Only relevant family history is me, my two sons, my mother had Meniere’s and her mother’s sister was high-frequency deaf.

Nothing else. The consultant has taken blood to check for a couple of the commoner syndromes. I have an extra bit on my left ear, cartilage, but no sinus or dimples (all can be signs of a hearing problem) also she noted the skin problem on my hands and feet and said there is one syndrome that has skin problems. She mentioned Connexin26 (I need to read up on that). Blood will be stored so the DNA is available for future tests. She did not want blood from my sons. She also has taken photos of my ears, hands and feet. She thinks that the boys won’t pass on their deafness but the girls might pass on the gene to their children. So far I only have two grandchildren and both have normal hearing. My sons are less concerned about the deafness than they are about inheriting the male baldness on my side of the family. The consultant said sometimes there are specific things that show up on MRI so she is gong to chase up the result of that. I have heard nothing about the CAT scan or MRI – hopefully I will get some information on the 13th December.

Cherry

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